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Neurology Genetics
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August 2022; 8 (4) Research ArticleOpen Access

Genome Sequencing in the Parkinson Disease Clinic

View ORCID ProfileEmily J. Hill, View ORCID ProfileLaurie A. Robak, Rami Al-Ouran, View ORCID ProfileJennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, View ORCID ProfileHarshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, View ORCID ProfileZhandong Liu, Richard A. Gibbs, View ORCID ProfileChad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman
First published June 20, 2022, DOI: https://doi.org/10.1212/NXG.0000000000200002
Emily J. Hill
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • ORCID record for Emily J. Hill
  • For correspondence: emily.j.hill8@gmail.com
Laurie A. Robak
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • ORCID record for Laurie A. Robak
  • For correspondence: robak@bcm.edu
Rami Al-Ouran
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: rami.alouran@gmail.com
Jennifer Deger
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • ORCID record for Jennifer Deger
  • For correspondence: jennifer.deger@bcm.edu
Jamie C. Fong
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: jamie.fong@bcm.edu
Paul Jerrod Vandeventer
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: paul.vandeventer@bcm.edu
Emily Schulman
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: emily.schulman@som.umaryland.edu
Sindhu Rao
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: sindhu.rao@bcm.edu
Hiba Saade
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: hiba.saade@bcm.edu
Joseph M. Savitt
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: jsavitt@som.umaryland.edu
Rainer von Coelln
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: rvoncoelln@som.umaryland.edu
Neeja Desai
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: desai.neeja14@gmail.com
Harshavardhan Doddapaneni
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: doddapan@bcm.edu
Sejal Salvi
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: sejal.salvi@bcm.edu
Shannon Dugan-Perez
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: sdugan@bcm.edu
Donna M. Muzny
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: donnam@bcm.edu
Amy L. McGuire
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: amcguire@bcm.edu
Zhandong Liu
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: zhandonl@bcm.edu
Richard A. Gibbs
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: agibbs@bcm.edu
Chad Shaw
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • ORCID record for Chad Shaw
  • For correspondence: cashaw@bcm.edu
Joseph Jankovic
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: josephj@bcm.edu
Lisa M. Shulman
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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  • For correspondence: lshulman@som.umaryland.edu
Joshua M. Shulman
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
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Full PDF
Citation
Genome Sequencing in the Parkinson Disease Clinic
Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman
Neurol Genet Aug 2022, 8 (4) e200002; DOI: 10.1212/NXG.0000000000200002

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Abstract

Background and Objectives Genetic variants affect both Parkinson disease (PD) risk and manifestations. Although genetic information is of potential interest to patients and clinicians, genetic testing is rarely performed during routine PD clinical care. The goal of this study was to examine interest in comprehensive genetic testing among patients with PD and document reactions to possible findings from genome sequencing in 2 academic movement disorder clinics.

Methods In 203 subjects with PD (age = 63 years, 67% male), genome sequencing was performed and filtered using a custom panel, including 49 genes associated with PD, parkinsonism, or related disorders, as well as a 90-variant PD genetic risk score. Based on the results, 231 patients (age = 67 years, 63% male) were surveyed on interest in genetic testing and responses to vignettes covering (1) familial risk of PD (LRRK2); (2) risk of PD dementia (GBA); (3) PD genetic risk score; and (4) secondary, medically actionable variants (BRCA1).

Results Genome sequencing revealed a LRRK2 variant in 3% and a GBA risk variant in 10% of our clinical sample. The genetic risk score was normally distributed, identifying 41 subjects with a high risk of PD. Medically actionable findings were discovered in 2 subjects (1%). In our survey, the majority (82%) responded that they would share a LRRK2 variant with relatives. Most registered unchanged or increased interest in testing when confronted with a potential risk for dementia or medically actionable findings, and most (75%) expressed interest in learning their PD genetic risk score.

Discussion Our results highlight broad interest in comprehensive genetic testing among patients with PD and may facilitate integration of genome sequencing in clinical practice.

Glossary

ACMG=
American College of Medical Genetics and Genomics;
HGMD=
Human Gene Mutation Database;
PD=
Parkinson disease;
VUS=
variants of uncertain significance

Footnotes

  • Go to Neurology.org/NG for full disclosures. Funding information is provided at the end of the article.

  • ↵* These authors contributed equally and are co–first authors.

  • The Article Processing Charge was funded by the authors.

  • Received November 27, 2021.
  • Accepted in final form April 22, 2022.
  • Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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